Ohara K, Ino A, Ishigaki T, Tani K, Tsukamoto T, Nakamura Y, Ohara K
Department of Psychiatry, Hamamatsu University School of Medicine, Schizuoka, Japan.
Neuropsychopharmacology. 1997 Oct;17(4):274-8. doi: 10.1016/S0893-133X(97)00052-3.
We studied the 5'-flanking promoter region comprising positions -1441 to +128 of the 5-HT2A receptor gene in 95 schizophrenics and 100 unrelated normal control subjects. The genes encoding the 5-HT2A receptor exons and the adjoining introl regions had already been studied in these subjects, but no disease specific polymorphism was found (Ishigaki et al., 1996). The DNA fragments were amplified by means of the polymerase chain reaction (PCR), and then analyzed by the single-stranded conformation polymorphism (SSCP) and sequencing methods. One patient had a substitution, from A to G, at position -668, and a 5 nucleotide deletion of TACTT at positions -646 to -642, however, the patient also had a normal sequence on the other allele. SSCP analysis showed that the other schizophrenics and the control subjects did not have any polymorphism in the 5'-flanking promoter region of the 5-HT2A receptor gene.
我们研究了5-羟色胺2A（5-HT2A）受体基因5'-侧翼启动子区域，该区域包含-1441至+128位，研究对象为95名精神分裂症患者和100名无亲缘关系的正常对照者。之前已对这些对象中编码5-HT2A受体外显子及相邻内含子区域的基因进行了研究，但未发现疾病特异性多态性（石垣等人，1996年）。通过聚合酶链反应（PCR）扩增DNA片段，然后采用单链构象多态性（SSCP）和测序方法进行分析。一名患者在-668位发生了从A到G的替换，在-646至-642位有5个核苷酸TACTT的缺失，不过，该患者的另一个等位基因序列正常。SSCP分析表明，其他精神分裂症患者和对照者在5-HT2A受体基因的5'-侧翼启动子区域没有任何多态性。
